Maternally Inherited Diabetes and Deafness (MIDD) - Atypical Clinical Diabetes Features Leading to the Diagnosis.

Maternally inherited diabetes and deafness (MIDD) syndrome refers to a rarely diagnosed disorder caused by pathogenic variants in mtDNA. It was first identified in 1992 and, to date, is considered underdiagnosed because of misclassification to type 1 or type 2 diabetes mellitus. MIDD reflects a multisystem metabolic syndrome commonly resulting in insulin-requiring diabetes and sensorineural deafness but can also lead to a broad range of other manifestations.

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.

Objective: The study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.

Real-world application of ATA Guidelines in over 600 aspirated thyroid nodules: is it time to change the size cut-offs for FNA?

Background: The 2015 American Thyroid Association (ATA) Guidelines recommend the following size cut-offs based on sonographic appearances for subjecting nodules to fine-needle aspiration (FNA) biopsy: low risk: 15 mm and intermediate risk and high risk: 10 mm.

Objective: We conducted a 'real-world' study evaluating the diagnostic performance of the ATA cut-offs against increased thresholds, in the interest of safely limiting FNAs.

Methods: We performed a retrospective analysis of prospectively collected data on 604 nodules which were sonographically risk-stratified as per the ATA Guidelines and subsequently subjected to ultrasound-guided FNA.

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is caused by mutations in the gene. The study refers to CAH patients of Greek-Cypriot ancestry between years 2007 and 2018. One hundred and twenty patients with various degrees of CAH were categorized and genotyped.

Combined effect of glutamine at position 70 of HLA-DRB1 and alanine at position 57 of HLA-DQB1 in type 1 diabetes: An epitope analysis.

The contribution of specific HLA Class II alleles in type 1 diabetes is determined by polymorphic amino acid epitopes that direct antigen binding therefore, along with conventional allele frequency analysis, epitope analysis can provide important insights into disease susceptibility. We analyzed the highly heterogeneous Cypriot population for the HLA class II loci of T1DM patients and controls and we report for the first time their allele frequencies. Within our patient cohort we identified a subgroup that did not carry the DRB1*03:01-DQA1*05:01-DQB1*02:01 and DRB1*04:xx-DQA1*03:01-DQB1*03:02 risk haplotypes but a novel recombinant one, DRB1*04:XX-DQA1*03:01-DQB1*02:01 designated DR4-DQ2.

Variations in the 3'UTR of the Gene in Heterozygous Females with Hyperandrogenaemia.

Heterozygosity for mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and women with mutations and variants in the 3'UTR region of the gene. Sixty-six patients out of the 169 were identified as carriers of mutations.

Bilateral adrenal hemorrhage: an overlooked cause of hypotension.

Bilateral adrenal hemorrhage resulting in acute adrenal insufficiency is a rare complication of anticoagulant therapy. We present the case of a patient who came to the Emergency Department with unsuspected adrenal insufficiency, followed by a second visit within 1 month with shock, to demonstrate the importance of early detection and treatment.

Pituitary apoplexy after leuprolide.

Clinically unsuspected pituitary adenomas are common among adults on autopsy and MRI survey. Acute pituitary hemorrhage is far more rare. We report a case of a 61-year-old male patient with locally advanced prostate cancer who presented with an acute picture of pituitary apoplexy after his first dose of leuprolide.

Infertility and thyroid disorders.

Purpose Of Review: This review highlights the 'gap' in knowledge regarding the contribution of thyroid dysfunction in reproduction. Thyroid dysfunction, which is quite prevalent in the population affects many organs including the male and female gonads, interferes with human reproductive physiology, reduces the likelihood of pregnancy and adversely affects pregnancy outcome, thus becoming relevant in the algorithm of reproductive dysfunction.

Recent Findings: Although menstrual irregularities are common, ovulation and conception can still occur in hypothyroidism, where thyroxine treatment restores a normal menstrual pattern and reverses hormonal changes.

Milk-alkali syndrome is a major cause of hypercalcaemia among non-end-stage renal disease (non-ESRD) inpatients.

Objective: Milk-alkali syndrome, once a common cause of hypercalcaemia, is now considered rare. Our aim was to estimate the prevalence of milk-alkali syndrome among hypercalcaemic, non-end-stage renal disease (non-ESRD) inpatients of a University Hospital and identify patients' and syndrome characteristics.

Design And Patients: In this retrospective chart review study, we identified patients hospitalized with possible hypercalcaemia between November 1998 and October 2003 by a computer search of admission, discharge and consultation diagnoses.

Calcium carbonate toxicity: the updated milk-alkali syndrome; report of 3 cases and review of the literature.

Objective: To describe 3 patients with calcium carbonate-induced hypercalcemia and gain insights into the cause and management of the milk-alkali syndrome.

Methods: We report the clinical and laboratory data in 3 patients who presented with severe hypercalcemia (corrected serum calcium > or = 14 mg/dL) and review the pertinent literature on milk-alkali syndrome.

Results: The 3 patients had acute renal insufficiency, relative metabolic alkalosis, and low parathyroid hormone (PTH), PTH-related peptide, and 1,25-dihydroxyvitamin D concentrations.

Milk-alkali syndrome in pregnancy.

Background: Severe hypercalcemia, a potentially life-threatening medical emergency, is rare in pregnancy.

Case: We report a 32-year-old woman presenting early in the second trimester with severe hypercalcemia (total calcium 22 mg/dL), alkalosis, and acute renal insufficiency resulting from excessive ingestion of calcium carbonate-containing antacid for gastroesophageal reflux. The patient was treated with aggressive hydration and furosemide, and received 1 dose of intravenous etidronate, leading to short-term symptomatic hypocalcemia.